Canonical Allele Identifier: CA2495872532

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475192_47475198delinsGAAGTTC , CM000664.2:g.47475192_47475198delinsGAAGTTC	GRCh38
NC_000002.11:g.47702331_47702337delinsGAAGTTC , CM000664.1:g.47702331_47702337delinsGAAGTTC	GRCh37
NC_000002.10:g.47555835_47555841delinsGAAGTTC	NCBI36
NG_007110.2:g.77069_77075delinsGAAGTTC , LRG_218:g.77069_77075delinsGAAGTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1927_1933delinsGAAGTTC	ENSP00000495641.2:p.Glu643=
ENST00000233146.7:c.1927_1933delinsGAAGTTC MANE Select	ENSP00000233146.2:p.Glu643=
ENST00000543555.6:c.1729_1735delinsGAAGTTC	ENSP00000442697.1:p.Glu577=
ENST00000644092.1:c.*227_*233delinsGAAGTTC	ENSP00000496351.1:n.*227_*233delinsGAAGTTC
ENST00000645339.1:c.1927_1933delinsGAAGTTC	ENSP00000496441.1:p.Glu643=
ENST00000645506.1:c.1927_1933delinsGAAGTTC	ENSP00000495455.1:p.Glu643=
ENST00000646415.1:c.1927_1933delinsGAAGTTC	ENSP00000495543.1:p.Glu643=
ENST00000233146.6:c.1927_1933delinsGAAGTTC	ENSP00000233146.2:p.Glu643=
ENST00000406134.5:c.1927_1933delinsGAAGTTC	ENSP00000384199.1:p.Glu643=
ENST00000543555.5:c.1729_1735delinsGAAGTTC	ENSP00000442697.1:p.Glu577=
ENST00000610696.4:c.*323_*329delinsGAAGTTC	ENSP00000483159.1:n.*323_*329delinsGAAGTTC
ENST00000613514.4:c.*467_*473delinsGAAGTTC	ENSP00000484137.1:n.*467_*473delinsGAAGTTC
ENST00000617333.3:c.*693_*699delinsGAAGTTC	ENSP00000482468.1:n.*693_*699delinsGAAGTTC
ENST00000617938.4:c.*899_*905delinsGAAGTTC	ENSP00000481158.1:n.*899_*905delinsGAAGTTC
ENST00000621359.2:c.1927_1933delinsGAAGTTC	ENSP00000481416.1:p.Glu643=
NM_000251.2:c.1927_1933delinsGAAGTTC , LRG_218t1:c.1927_1933delinsGAAGTTC	NP_000242.1:p.Glu643=
NM_001258281.1:c.1729_1735delinsGAAGTTC	NP_001245210.1:p.Glu577=
XM_005264332.2:c.1927_1933delinsGAAGTTC	XP_005264389.2:p.Glu643=
XM_011532867.1:c.1927_1933delinsGAAGTTC	XP_011531169.1:p.Glu643=
XR_939685.1:n.1999_2005delinsGAAGTTC
XM_005264332.4:c.1927_1933delinsGAAGTTC	XP_005264389.2:p.Glu643=
XM_011532867.2:c.1927_1933delinsGAAGTTC	XP_011531169.1:p.Glu643=
XR_001738747.2:n.1989_1995delinsGAAGTTC
XR_939685.2:n.1989_1995delinsGAAGTTC
NM_000251.3:c.1927_1933delinsGAAGTTC MANE Select	NP_000242.1:p.Glu643=